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Author

Hwi M. Gil

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2 papers indexed here

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Review Open access Oct 2026

TLR8 gain-of-function syndrome

In this Review, Gil and Cooper review the molecular, immunologic, and clinical features of TLR8 gain-of-function syndrome. They review findings from patients with mosaic and germline disease, and integrate knowledge of key structural components of the TLR8 protein.

Hwi M. Gil, M. Cooper · 0 citations
Open access Sep 2026

Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy

An elderly woman with severe chronic neutropenia caused by mosaic TLR8 gain-of-function is described, which broadens a primarily pediatric, male disease spectrum and highlights somatic mosaicism as an important diagnostic consideration in adults with unexplained cytopenia and immune dysregulation.

J. Patel, Nermina Saucier, Hwi M. Gil et al. · 1 citation

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